Zobrazeno 1 - 7
of 7
pro vyhledávání: '"August, Allocco"'
Autor:
Adam J. Kundishora, Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir Gainullin, Andrew T. Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q. Duy, Aladine A. Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M. Qureshi, Michael L. DiLuna, Shrikant Mane, Irina R. Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Charuta G. Furey, Bob S. Carter, Shozeb Haider, Andres Moreno-De-Luca, Seth L. Alper, Murat Gunel, Francisca Millan, Richard P. Lifton, Rebecca I. Torene, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Medicine. 29:667-678
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ddcb39fe7c83d567c19dfb555a653bf
https://doi.org/10.1038/s41591-023-02238-2
https://doi.org/10.1038/s41591-023-02238-2
Autor:
Weilai Dong, Sheng Chih Jin, August Allocco, Xue Zeng, Amar H. Sheth, Shreyas Panchagnula, Annie Castonguay, Louis-Étienne Lorenzo, Barira Islam, Geneviève Brindle, Karine Bachand, Jamie Hu, Agata Sularz, Jonathan Gaillard, Jungmin Choi, Ashley Dunbar, Carol Nelson-Williams, Emre Kiziltug, Charuta Gavankar Furey, Sierra Conine, Phan Q. Duy, Adam J. Kundishora, Erin Loring, Boyang Li, Qiongshi Lu, Geyu Zhou, Wei Liu, Xinyue Li, Michael C. Sierant, Shrikant Mane, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Raymond F. Sekula, Jr., J. Marc Simard, Emad N. Eskandar, Christopher Gottschalk, Jennifer Moliterno, Murat Günel, Jason L. Gerrard, Sulayman Dib-Hajj, Stephen G. Waxman, Fred G. Barker, II, Seth L. Alper, Mohamed Chahine, Shozeb Haider, Yves De Koninck, Richard P. Lifton, Kristopher T. Kahle
Publikováno v:
iScience, Vol 23, Iss 10, Pp 101552- (2020)
Summary: Trigeminal neuralgia (TN) is a common, debilitating neuropathic face pain syndrome often resistant to therapy. The familial clustering of TN cases suggests that genetic factors play a role in disease pathogenesis. However, no unbiased, large
Externí odkaz:
https://doaj.org/article/7d4dc8f9ca434d10935677d5c5a4aeb5
Autor:
Sheng Chih Jin, Charuta G. Furey, Xue Zeng, August Allocco, Carol Nelson‐Williams, Weilai Dong, Jason K. Karimy, Kevin Wang, Shaojie Ma, Eric Delpire, Kristopher T. Kahle
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Congenital hydrocephalus (CH) is a highly morbid disease that features enlarged brain ventricles and impaired cerebrospinal fluid homeostasis. Although early linkage or targeted sequencing studies in large multigenerational famili
Externí odkaz:
https://doaj.org/article/3db5cb3713634bbdb2d86ee4a140f6b9
Autor:
Amrita K. Singh, Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib, John P. Shohfi, Phan Q. Duy, Tyrone DeSpenza, Charuta G Furey, Benjamin C. Reeves, Hannah Smith, Shaojie Ma, André M. M. Sousa, Adriana Cherskov, August Allocco, Carol Nelson-Williams, Shozeb Haider, Syed R. A. Rizvi, Seth L. Alper, Nenad Sestan, Hermela Shimelis, Lauren K. Walsh, Richard P. Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T. Kahle
Publikováno v:
medRxiv
ImportanceHydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery. A few familial forms of congenital hydrocephalus (CH) have been identified, but the cause of most sporadic cases of CH remains e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d5b4777feae2c28d2d2914f370fe856
https://doi.org/10.1101/2023.03.19.23287455
https://doi.org/10.1101/2023.03.19.23287455
Autor:
Andrew T, Timberlake, Emre, Kiziltug, Sheng Chih, Jin, Carol, Nelson-Williams, Erin, Loring, August, Allocco, Arnaud, Marlier, Siddharth, Banka, Helen, Stuart, Maria Rita, Passos-Buenos, Rafael, Rosa, Silvia R, Rogatto, Elin, Tonne, Amy L, Stiegler, Titus J, Boggon, Michael, Alperovich, Derek, Steinbacher, David A, Staffenberg, Roberto L, Flores, John A, Persing, Kristopher T, Kahle, Richard P, Lifton
Publikováno v:
Human genetics.
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the parietal and occipital bones. Predominantly sporadic, it is the rarest form of CS and its genetic etiology is largely unexplored.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::32792606752e5d5f74de89d76fe12d14
https://pubmed.ncbi.nlm.nih.gov/35997807
https://pubmed.ncbi.nlm.nih.gov/35997807
Publikováno v:
The Journal of Collegiate Emergency Medical Services.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::173537c404017ca424ffefe0dcfd7f75
https://doi.org/10.30542/jcems.2018.01.s1.06
https://doi.org/10.30542/jcems.2018.01.s1.06
Autor:
Elena I, Fomchenko, Daniel, Duran, Sheng Chih, Jin, Weilai, Dong, E Zeynep, Erson-Omay, Prince, Antwi, August, Allocco, Jonathan R, Gaillard, Anita, Huttner, Murat, Gunel, Michael L, DiLuna, Kristopher T, Kahle
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Congenital hemangiomas are tumor-like vascular malformations with poorly understood pathogenesis. We report the case of a neonate with a massive congenital scalp hemangioma that required urgent neurosurgical removal on the second day of life because
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f243804c17e0011d0b3f00a66b005942
https://pubmed.ncbi.nlm.nih.gov/29903892
https://pubmed.ncbi.nlm.nih.gov/29903892